November

Better support, treatment and research for millions of patients with rare diseases

Newcastle University will be taking a leading role in the UK’s first strategy to help build understanding of rare diseases and boost research to find effective treatments and therapies.

Launched by Health Minister Lord Howe, the UK Rare Diseases Strategy aims to ensure that none of the three million people in the UK who are affected by rare diseases are left behind and involves pioneering research at Newcastle University.

For the first time, it sets out a UK-wide vision for building on our reputation as a world leader in rare disease research, including revolutionary genomic research to help transform diagnosis and treatment.

In parallel with the launch of the strategy, the Government announced that the National Institute for Health Research (NIHR) is establishing a Rare Diseases Translational Research Collaboration (TRC). With investment of £20 million over four years, it will help to increase research collaboration that will lead to improved diagnosis, treatment and care for people with rare diseases.

At Newcastle University, the collaboration into rare diseases is led by Professor Patrick Chinnery who said: "Most rare diseases have no treatment, and together they affect 7% of the population. The NIHR Rare Diseases Translational Research Collaboration will help us understand these diseases, and working with the life sciences industry, we will develop new treatments to help patients and families, and contribute to economic growth."

Millions affected by rare diseases

Making the announcement, Health Minister Lord Howe said: “Millions of people in the UK are affected by the thousands of different kinds of chronically debilitating illnesses that are defined as rare diseases. So when looked at as a whole, rare diseases are not rare and our focus should be on making sure that no one who suffers from one is left behind.

“For the first time, we are strengthening the links between research and the treatment and care of patients with rare diseases. This is about putting those patients first, with better diagnosis, treatment and support for them and their families.

“The UK already leads the way with ground-breaking research to better understand and treat these illnesses and this strategy will help cement our reputation as the driving force in this field.”

A rare disease is a life-threatening or chronically debilitating disease that affects five people or fewer in 10,000, and requires special, combined efforts to enable patients to be treated effectively.

There are already more than 5,000 rare diseases identified and the total is steadily rising as new genetic discoveries explain previously unexplained disease patterns. It is estimated that one in 17 people will suffer from a rare disease in the course of their lifetime. In the UK, this means more than three million people will have a rare disease.

Therefore, when looked at as a whole, rare diseases are not rare. They represent a significant cause of illness, making considerable demands on the resources and capacity of the NHS and other care services.The United Kingdom is a recognised leader in the field of rare disease research, treatment and care. The genomics revolution has the potential to radically transform the diagnosis and treatment of patients with rare diseases over the next ten years. Last year, the Prime Minister, David Cameron, announced that the personal DNA code — known as a genome — of up to 100,000 patients or infections in patients will be sequenced over the next five years. This will improve understanding, leading to better and earlier diagnosis and personalised care.

The project is being led by Genomics England, a company entirely owned by the Department of Health, and rare diseases is one of its key priorities.

UK rare diseases strategy

Key elements of the strategy include:

a clear personal care plan for every patient that brings together health and care services, with more support for them and their families

support for specialised clinical centres to offer the best care and support

better education and training for health and social care professionals to help ensure earlier diagnosis and access to treatment

promoting the UK as a world leader in research and development to improve the understanding and treatment of rare diseases

Alastair Kent OBE, Chair of Rare Disease UK, which was part of the stakeholder forum that helped shaped the strategy, said: “Patients and families affected by life limiting rare diseases have often struggled to get a diagnosis and to access services that meet their needs. While the NHS has demonstrated that it is capable of delivering a world class service, the experience of patients has been that this is by no means a universal experience. With the development of the UK Strategy for Rare Diseases patients and families can have a clear expectation of what to expect from the NHS, wherever they live in the UK."